An unusual case of incomplete isosexual precocious puberty in a young girl with juvenile hypothyroidism

2014 ◽  
Vol 3 (3) ◽  
pp. 188
Author(s):  
PranabKumar Sahana ◽  
Nilanjan Sengupta ◽  
Chanchal Das ◽  
Ranen Dasgupta
Author(s):  
Victoria C Andriessen ◽  
Marissa Lightbourne ◽  
Chelsi Flippo ◽  
Fabio R Faucz ◽  
Angela Delaney ◽  
...  

Abstract Sex hormone-binding globulin (SHBG) in the blood is a major determinant of bioactivity for key sex steroids such as testosterone and estradiol. Low serum levels of SHBG have been associated with obesity, polycystic ovaries and metabolic syndrome, and other states associated with hyperandrogenemia. A 9-year, 6-month-old girl presented with a history of peripheral precocious puberty and aggressive behavior. The patient’s SHBG level was remarkably low for her age, at less than 5 nmol/L [reference range for a girl with a bone age of 10 years, 73 nmol/L (SEM= 10)](1). Upon genetic and protein analysis, the patient was found to have a homozygous missense potentially pathogenic variant in the SHBG gene (c.554 C>T, p.P185L); her parents were asymptomatic heterozygote carriers. Laboratory investigations supported the possible involvement of this genetic alteration in the patient’s phenotype. Various analyses of this variant support its pathogenicity, although the exact mechanism remains unclear. In conclusion, we present a genetic SHBG variant in the homozygote state that may have been associated with gonadotropin-independent precocious puberty in a young girl.


1997 ◽  
Vol 9 (4) ◽  
pp. 443-446 ◽  
Author(s):  
Susan D. Boulware

Author(s):  
Noah Feit ◽  
Conall Fitzgerald ◽  
Timothy McLean ◽  
Richard Wong

We describe an unusual case of a young girl presenting with a large vagal schwannoma necessitating a transcervical-mandibulotomy approach for total tumor resection. The presentation is unique due to the size of the lesion, the patient’s age, the operative approach, and molecular pathology.


2002 ◽  
Vol 96 (2) ◽  
pp. 361-363 ◽  
Author(s):  
László Bognár ◽  
Katalin Bálint ◽  
Zsolt Bárdóczy

✓ The authors present a case of an ossified lipoma located at the tuber cinereum. Intracranial osteolipomas are rare lesions that occur in the region of the tuber cinereum. Almost all reported cases have been incidental autopsy findings. This report, however, involves a young girl who presented with an ovarian cyst and signs of precocious puberty, in whom a typical osteolipoma was surgically removed. This is the first case of hypothalamic osteolipoma presenting with endocrinological disturbances that has been published to date.


2017 ◽  
Vol 6 (69) ◽  
pp. 4966-4967
Author(s):  
Daspin D ◽  
Tom Aby ◽  
Ramalingam Sivaraman ◽  
Francis G

Sign in / Sign up

Export Citation Format

Share Document